Assay Details
Target Gene Details
Entrez Gene ID: | 2584 |
Gene Name: | galactokinase 1 |
Gene Aliases: |
GALK, GK1, HEL-S-19 |
Location: |
Chr.17:75757937-75765199 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 3 - Exon 4 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| GALK1 | NM_000154.1 | NP_000145.1 | ||
| AK303748.1 | 3 | 727 | ||
| AK303832.1 | ||||
| AK310203.1 | 4 | 833 | ||
| AK314890.1 | ||||
| AK316181.1 | 3 | 711 | ||
| BC001166.1 | AAH01166.1 | |||
| BT007005.1 | AAP35651.1 | |||
| EU794610.1 | ||||
| U26401.1 | AAA96147.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv833544 | Chr.17:75595541 - 75771639 on Build GRCh38 | Loss |
|
| nsv470606 | Chr.17:75750289 - 75848667 on Build GRCh38 | Loss |
|
| nsv516133 | Chr.17:75420733 - 75763223 on Build GRCh38 | Loss |
|
| nsv833545 | Chr.17:75738140 - 75945931 on Build GRCh38 | Gain |
|
More Information
Set Membership: |
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Genomic Map